Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Zhang, Sidi; Samocha, Kaitlin E; Rivas, Manuel A; Karczewski, Konrad J; Daly, Emma; Schmandt, Ben; Neale, Benjamin M; MacArthur, Daniel G; Daly, Mark J

Zhang, Sidi; Samocha, Kaitlin E; Rivas, Manuel A; Karczewski, Konrad J; Daly, Emma; Schmandt, Ben; Neale, Benjamin M; MacArthur, Daniel G; Daly, Mark J.

Affiliation

Zhang S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Samocha KE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Rivas MA; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.
Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Daly E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Schmandt B; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.
Neale BM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Genome Res ; 28(7): 968-974, 2018 07.

Article de En | MEDLINE | ID: mdl-29858273

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Épissage des ARN / Épissage alternatif / Sites d'épissage d'ARN / Mutation / Nucléotides Limites: Humans Langue: En Journal: Genome Res Sujet du journal: BIOLOGIA MOLECULAR / GENETICA Année: 2018 Type de document: Article Pays d'affiliation: États-Unis d'Amérique

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